HIRA

Chr 22q11.21

histone cell cycle regulator

Aliases:: DGCR1, TUP1
MANE:: ENST00000263208.5

OMIM: 600237 ↗NCBI: 7290 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HIRA · P54198

v62025-08-01

Predicted Aligned Error matrix for HIRA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.4/ 100

Confident

1,017 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)14%
Low(50–70)8%
Very low(< 50)27%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.35
neurodevelopmental disorder
0.22
complex neurodevelopmental disorder
0.18
Fanconi anemia
0.12
Familial prostate cancer
0.11
prostate cancer
0.11
infection
0.08
viral infectious disease
0.04
pachyonychia congenita
0.04
cancer
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein HIRA

Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit